Cardiomyopathy refers to diseases where the heart muscle is abnormal. These diseases have many causes, signs and symptoms. The main types of cardiomyopathy include dilated, hypertrophic and restrictive cardiomyopathy. Those with cardiomyopathy are often at risk of dangerous forms of irregular heart rate and sudden cardiac death. Cardiomyopathy can be acquired where a patient develops the condition due to another disease, condition, or factor. Cardiomyopathy can also be inherited due to genetic abnormalities passed from the earlier generation.
Neonatal heart failure remains a significant problem resulting from a wide array of cardiac and non-cardiac causes. In the United States, the incidence of neonatal cardiomyopathy is approximately 0.87/100,000 or 12,000-35,000 U.S. children/year, with up to 70% of these patients present being infants. (Hsu D T, Pearson G D. Heart failure in children: part I: history, etiology, and pathophysiology. Circ Heart Fail 2009; 2:63-70.) Around three thousand surgeries are performed each year on infants in the first month of life to address a potentially fatal condition.
Cardiomyopathies in newborns are the result of energetic and functional deficiencies of the myocyte, including mitochondrial disease, genetic defects sometimes associated with congenital heart disease (CHD), and myocardial stunning after cardiac surgery for CHD.
Therapy for cardiomyopathies is typically non-specific because the etiology is often difficult to define in a timely manner. Patients are treated with inotropic agents and sometimes “mitochondrial” reagents such as carnitine and coenzyme Q that do not treat the primary cellular defect.
Despite persistent efforts over the past decades, understanding and management of cardiomyopathies in newborns remain challenging. There is an ongoing and urgent need for novel and improved therapeutics and methods.